A Novel Indian β-Thalassemia Mutation: Hb Lucknow [β8(A5)Lys→Arg]
- 1 January 1999
- journal article
- research article
- Published by Informa UK Limited in Hemoglobin
- Vol. 23 (3), 263-265
- https://doi.org/10.3109/03630269909005707
Abstract
This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8, which we have designated Hb Lucknow [β8(A5)Lys→Arg] after the place of residence of the proband. This nucleotide change is associated with the IVS-I-5 (G→C) mutation and is speculated to produce a thalassemia intermedia phenotype in the subject.Keywords
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